Canonical Allele Identifier: CA2122452780

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312367_21312369delinsCAG , CM000676.2:g.21312367_21312369delinsCAG	GRCh38
NC_000014.8:g.21780526_21780528delinsCAG , CM000676.1:g.21780526_21780528delinsCAG	GRCh37
NC_000014.7:g.20850366_20850368delinsCAG	NCBI36
NG_008933.1:g.29391_29393delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-66_1078-64delinsCAG MANE Select	ENSP00000382895.2:n.1078-66_1078-64delinsCAG
ENST00000400017.6:c.1078-66_1078-64delinsCAG	ENSP00000382895.2:n.1078-66_1078-64delinsCAG
ENST00000556336.5:c.997-66_997-64delinsCAG	ENSP00000450445.1:n.997-66_997-64delinsCAG
ENST00000557771.5:c.997-66_997-64delinsCAG	ENSP00000451219.1:n.997-66_997-64delinsCAG
NM_020366.3:c.1078-66_1078-64delinsCAG	NP_065099.3:n.1078-66_1078-64delinsCAG
XM_011536983.1:c.1045-66_1045-64delinsCAG	XP_011535285.1:n.1045-66_1045-64delinsCAG
NM_020366.4:c.1078-66_1078-64delinsCAG MANE Select	NP_065099.3:n.1078-66_1078-64delinsCAG